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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827133270
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216450
ClinVar RCV Id:
RCV000197213
RCV000216807
RCV000487350
RCV001160657
RCV001192581
RCV003997027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.His288Asp
CA043547
NM_001322013.1:c.862C>G